期刊
JOURNAL OF CANCER
卷 9, 期 21, 页码 3858-3866出版社
IVYSPRING INT PUBL
DOI: 10.7150/jca.22855
关键词
lung cancer; runs of homozygosity; GWASs; genetic risk factors; regulatory elements
类别
资金
- National Natural Science Foundation of China [81573241, 31471188]
- China Postdoctoral Science Foundation [2016M602797]
- Natural Science Basic Research Program Shaanxi Province [2016JQ3026]
- Zhejiang Provincial Natural Science Foundation of China [LGF18C060002]
- Fundamental Research Funds for the Central Universities
Although genome-wide association studies (GWASs) have identified some risk single-nucleotide polymorphisms in East Asian never-smoking females, the unexplained missing heritability is still required to be investigated. Runs of homozygosity (ROHs) are thought to be a type of genetic variation acting on human complex traits and diseases. We detected ROHs in 8,881 East Asian never-smoking women. The summed ROHs were used to fit a logistic regression model which noteworthily revealed a significant association between ROHs and the decreased risk of lung cancer (P < 0.05). We identified 4 common ROHs regions located at 2p22.1, which were significantly associated with decreased risk of lung cancer (P = 2.00 x 10(-4) - 1.35 x 10(-4)). Functional annotation was conducted to investigate the regulatory function of ROHs. The common ROHs were overlapped with potential regulatory elements, such as active epigenome elements and chromatin states in lung-derived cell lines. SOSI and ARHGEF33 were significantly up-regulated as the putative target genes of the identified ROHs in lung cancer samples according to the analysis of differently expressed genes. Our results suggest that ROHs could act as recessive contributing factors and regulatory elements to influence the risk of lung cancer in never-smoking East Asian females.
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